Identifying sarcomere gene mutations in hypertrophic cardiomyopathy: a personal history
about
Mitochondrial dynamism and heart disease: changing shape and shaping changeImportance of genetic evaluation and testing in pediatric cardiomyopathyUnderstanding cardiac sarcomere assembly with zebrafish geneticsGenetics and disease of ventricular muscle.Clinical and Mechanistic Insights Into the Genetics of CardiomyopathyMutations in filamin C cause a new form of familial hypertrophic cardiomyopathyAdrenergic stress reveals septal hypertrophy and proteasome impairment in heterozygous Mybpc3-targeted knock-in miceIncreased myofilament Ca2+ sensitivity and diastolic dysfunction as early consequences of Mybpc3 mutation in heterozygous knock-in miceHypertrophic cardiomyopathy.Recent advances in muscle researchZebrafish cardiac muscle thick filaments: isolation technique and three-dimensional structure.Hypertrophic Cardiomyopathy Cardiac Troponin C Mutations Differentially Affect Slow Skeletal and Cardiac Muscle Regulation.Ca(2+)-regulatory function of the inhibitory peptide region of cardiac troponin I is aided by the C-terminus of cardiac troponin T: Effects of familial hypertrophic cardiomyopathy mutations cTnI R145G and cTnT R278C, alone and in combination, on filIdentification of a novel hypertrophic cardiomyopathy-associated mutation using targeted next-generation sequencing.β-Myosin heavy chain variant Val606Met causes very mild hypertrophic cardiomyopathy in mice, but exacerbates HCM phenotypes in mice carrying other HCM mutationsRare variants in genes encoding MuRF1 and MuRF2 are modifiers of hypertrophic cardiomyopathy.Matricellular proteins and biomaterials.Subdomain location of mutations in cardiac actin correlate with type of functional change.Copy number variants and the genetic enigma of congenital heart disease.Structural and protein interaction effects of hypertrophic and dilated cardiomyopathic mutations in alpha-tropomyosin.Altered interactions between cardiac myosin binding protein-C and α-cardiac actin variants associated with cardiomyopathiesHeterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome.The myosin mesa and a possible unifying hypothesis for the molecular basis of human hypertrophic cardiomyopathyMulti-scale computational models of familial hypertrophic cardiomyopathy: genotype to phenotype.Decoding the cardiac message: the 2011 Thomas W. Smith Memorial Lecture.Troponin I Mutations R146G and R21C Alter Cardiac Troponin Function, Contractile Properties, and Modulation by Protein Kinase A (PKA)-mediated Phosphorylation.Hypertrophic cardiomyopathy: translating cellular cross talk into therapeuticsSignificance of troponin dynamics for Ca2+-mediated regulation of contraction and inherited cardiomyopathy.Pathogenesis of hypertrophic cardiomyopathy caused by myozenin 2 mutations is independent of calcineurin activityAtomic model of the human cardiac muscle myosin filament.Left Ventricular Hypertrophy in Rhesus Macaques (Macaca mulatta) at the California National Primate Research Center (1992-2014)In vivo cardiac myosin binding protein C gene transfer rescues myofilament contractile dysfunction in cardiac myosin binding protein C null miceIntegrating Genetics and Medicine: Disease-Modifying Treatment Strategies for Hypertrophic Cardiomyopathy.Downregulation of GSTK1 Is a Common Mechanism Underlying Hypertrophic Cardiomyopathy.Impaired contractile function due to decreased cardiac myosin binding protein C content in the sarcomereElucidation of transcriptome-wide microRNA binding sites in human cardiac tissues by Ago2 HITS-CLIPIntroduction to the series: challenges and opportunities in pediatric heart failure and transplantation.Causality in genetics: the gradient of genetic effects and back to Koch's postulates of causality.The Role of Cardiac MRI in the Diagnosis and Risk Stratification of Hypertrophic Cardiomyopathy.Alterations in sarcomere function modify the hyperplastic to hypertrophic transition phase of mammalian cardiomyocyte development.
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P2860
Identifying sarcomere gene mutations in hypertrophic cardiomyopathy: a personal history
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2011 nî lūn-bûn
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2011 թուականի Մարտին հրատարակուած գիտական յօդուած
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2011 թվականի մարտին հրատարակված գիտական հոդված
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2011年の論文
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2011年論文
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2011年論文
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2011年論文
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2011年論文
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2011年論文
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2011年论文
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Identifying sarcomere gene mutations in hypertrophic cardiomyopathy: a personal history
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Identifying sarcomere gene mutations in hypertrophic cardiomyopathy: a personal history
@en
Identifying sarcomere gene mutations in hypertrophic cardiomyopathy: a personal history
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Identifying sarcomere gene mutations in hypertrophic cardiomyopathy: a personal history
@ast
Identifying sarcomere gene mutations in hypertrophic cardiomyopathy: a personal history
@en
Identifying sarcomere gene mutations in hypertrophic cardiomyopathy: a personal history
@nl
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Identifying sarcomere gene mutations in hypertrophic cardiomyopathy: a personal history
@ast
Identifying sarcomere gene mutations in hypertrophic cardiomyopathy: a personal history
@en
Identifying sarcomere gene mutations in hypertrophic cardiomyopathy: a personal history
@nl
P2860
P1433
P1476
Identifying sarcomere gene mutations in hypertrophic cardiomyopathy: a personal history
@en
P2093
Christine E Seidman
J G Seidman
P2860
P304
P356
10.1161/CIRCRESAHA.110.223834
P577
2011-03-01T00:00:00Z